Alison M. Muir

发表

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of neurology.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

G. Carvill, I. Scheffer, H. Mefford, 2018, The New England journal of medicine.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

H. Mefford, A. Fry, D. Pilz, 2018, Brain : a journal of neurology.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

I. Scheffer, H. Mefford, N. Brunetti‐Pierri, 2020, Epilepsia.

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2021, bioRxiv.

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

H. Mefford, A. Paetau, P. Striano, 2022, Brain : a journal of neurology.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

P. Lockhart, I. Scheffer, H. Mefford, 2020, Neuron.

Genetic heterogeneity in infantile spasms

H. Mefford, P. Striano, J. Serratosa, 2019, Epilepsy Research.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.

Marni J. Falk, N. Spinner, R. Ganetzky, 2021, Molecular genetics and metabolism.

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

H. Mefford, I. Thiffault, T. Pastinen, 2021, Genetics in Medicine.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

I. Scheffer, H. Mefford, M. Bahlo, 2023, Epilepsia.

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

H. Mefford, E. Zackai, D. Zeevi, 2020, American journal of human genetics.

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

H. Mefford, F. Brancati, M. McDonald, 2021, HGG advances.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Magalie S Leduc, H. Mefford, G. Cooper, 2019, American journal of human genetics.